Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.Y828*

HRNR

313 papers

Pfam Domains

S_100aa 4–48UCSCS-100/ICaBP type calcium binding domain

Gene Aliases

HGNC Name

hornerin

HGNC Alias Symbols

S100a18; FLG3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001009931.3
p.Y828*
c.2484T>G
Surrounding Variants
1 paper
NM_001009931.3
p.Y828*
c.2484T>A
1 paper
NM_001009931.3
p.G827S
c.2479G>A
1 paper
NM_001009931.3
p.G823delins
c.2468_2469delinsAA
1 paper
NM_001009931.3
p.A834G
c.2501C>G
1 paper
NM_001009931.3
p.S840T
c.2519G>C
1 paper
NM_001009931.3
p.G816C
c.2446G>T
3 papers
NM_001009931.3
p.R843*
c.2527C>T
1 paper
NM_001009931.3
p.R843Q
c.2528G>A
1 paper
NM_001009931.3
p.G845A
c.2534G>C
1 paper
NM_001009931.3
p.T847fs
c.2539_2540fs
1 paper
NM_001009931.3
p.T847M
c.2540C>T
1 paper
NM_001009931.3
p.T847delFs
c.2540delG
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